1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070559 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
